A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. (Record no. 16368126)

MARC details
000 -LEADER
fixed length control field 01665 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515031434.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200611s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1018-4813
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/sj.ejhg.5201670
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Rendtorff, Nanna D
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20061102
245 00 - TITLE STATEMENT
Title A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. Oct 2006
300 ## - PHYSICAL DESCRIPTION
Extent 1097-105 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Actins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Follow-Up Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hearing Loss, Sensorineural
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Norway
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Saccharomyces cerevisiae
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhu, Mei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fagerheim, Toril
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Antal, Torben L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jones, MaryPat
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Teslovich, Tanya M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gillanders, Elizabeth M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barmada, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Teig, Erik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Trent, Jeffrey M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Friderici, Karen H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stephan, Dietrich A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tranebjaerg, Lisbeth
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 14
-- no. 10
-- p. 1097-105
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/sj.ejhg.5201670">https://doi.org/10.1038/sj.ejhg.5201670</a>
Public note Available from publisher's website

No items available.